As parents and family members, we want our children to grow up as healthy and happy as possible. When there is a medical condition causing challenges with development and growth, finding out the cause and seeking out effective care becomes the number one priority. A diagnosis of tuberous sclerosis can be particularly scary considering that this condition can affect your child’s body.
Fortunately, there are many treatments that can help children with tuberous sclerosis live an active and healthy life. By learning as much as possible, you can take a proactive role as a caregiver and work with your treatment team to get the best outcome for your little one.
What Is Tuberous Sclerosis?
Tuberous sclerosis complex is a relatively rare genetic disorder that causes the growth of noncancerous, or benign, tumors throughout the body affecting the brain, eyes, lungs, heart, kidneys, and skin.
In many cases, tuberous sclerosis is first identified and diagnosed in infancy or early childhood. If the condition and associated symptoms are mild, doctors may not diagnose it until later in adulthood.
Although there is not a cure for tuberous sclerosis, it is highly treatable and many patients are able to manage symptoms successfully.
Causes and Risk Factors of Tuberous Sclerosis
Tuberous sclerosis complex is caused by a mutation to specific genes that control cell growth. When this gene does not work properly, it can cause cells to grow out of control, resulting in noncancerous tumors called hamartomas. The mutated gene can either be passed down through families or in some cases occur randomly.
In about two thirds of cases, the person with tuberous sclerosis does not have a family history of the condition. When the tuberous sclerosis gene is present, there is a 50% chance of passing it on to a biological child.
Tuberous Sclerosis Symptoms
There is a very wide range of possible symptoms for tuberous sclerosis, depending on the severity of the condition and where the tumors are growing. These symptoms may include:
- Skin problems: Including areas of light skin, bumpy skin, and raised patches on the forehead, face, and around the nails.
- Brain issues: Including seizures, cognitive issues, developmental delays, and behavioral challenges.
- Eye problems: Including patches on the retinas that usually don’t interfere with vision.
- Heart growths: Growths on the heart that will often shrink as children grow older.
- Lung issues: Tumors in the lungs that can interfere with breathing and inhibit physical activity.
- Kidney problems: Growths on the kidneys that can lead to weak spots and kidney bleeding.
- Oral and Dental issues: Tuberous sclerosis can cause pits on the surface of the teeth, and growths on the gums, tongue, and inside of the mouth.
Tuberous Sclerosis Complications
The growths may be mild and cause relatively few problems for some children, while in other cases they may result in more serious complications. This can include buildup of fluid around the brain, blockages and arrhythmias in the heart, kidney damage, and lung damage or failure. While the growths associated with tuberous sclerosis are noncancerous, this condition can also increase the risk of cancer developing in patients.
Diagnosing Tuberous Sclerosis
Early signs of tuberous sclerosis in children include lighter patches on the skin, seizures, and developmental delays such as walking, talking, and learning new skills. To identify the underlying cause of these problems, doctors can take the following steps:
- Review medical history and family history.
- Ask questions about specific symptoms and how they are affecting quality of life and activities.
- Perform a physical examination.
- Order diagnostic imagery such as X-ray, CT scan, and MRI.
- Order diagnostic tests for specific areas of the body, including an echocardiogram of the heart.
- Order developmental and mental evaluations.
- Genetic testing.
If tuberous sclerosis is determined to be the underlying cause of symptoms, families can work with their medical providers to create a personalized treatment plan for their child’s specific case.
Tuberous Sclerosis Treatments
Treatment will generally depend on the location and severity of symptoms, but will often involve the following:
- Medication can be used to help shrink the tumors.
- Topical medication to help with skin growths or acne.
- Anti-seizure medication.
- Surgery to remove tumors that are causing problems and affecting organ function.
Successfully treating tuberous sclerosis often requires close collaboration between a number of different specialists, including neurologists, general practitioners, surgeons, dermatologists, pulmonologists, and cardiologists.
Caring for a Child with Tuberous Sclerosis
Tuberous sclerosis in children is usually a condition that requires ongoing care needs. In many situations, treatments such as physical therapy, occupational therapy, and behavioral therapy can help manage and overcome developmental and cognitive issues. Families can also benefit from psychological counseling and support groups to help manage issues like stress, anxiety, and uncertainty that can come with living with a condition like tuberous sclerosis.
To help balance the often substantial care needs of children with this condition with the ongoing needs of busy families, pediatric home health services can be essential. From assisting with medications and treatments at home, to helping kids with exercises and activities, a home health professional can support children with tuberous sclerosis and help families achieve the best possible outcomes.
Contact Care Options for Kids For Pediatric Home Health Care
It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids is here to help.
Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.
If you are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.
